| Metadata | |
|---|---|
| ID | DOID:0070402 |
| Name | hypomyelinating leukodystrophy 22 |
| Definition | A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. https://pubmed.ncbi.nlm.nih.gov/33313762/ |
| Xrefs | |
| Synonyms |
HLD22 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |